X-linked distal arthrogryposis multiplex congenita   719836007

SNOMED CT code


SNOMED code719836007
nameX-linked distal arthrogryposis multiplex congenita
statusactive
date introduced2017-01-31
fully specified name(s)X-linked distal arthrogryposis multiplex congenita (disorder)
synonyms
  • X-linked distal arthrogryposis multiplex congenita
  • Spinal muscular atrophy with arthrogryposis
  • X-linked spinal muscular atrophy type 2
  • Infantile-onset X-linked spinal muscular atrophy
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyContracture   57048009
Pathological processPathological developmental process   308490002
Finding siteStructure of joint region   785818007
attributes - group2
Has interpretationDecreased   1250004
InterpretsRange of joint movement   364564000
attributes - group3
Finding sitePeripheral nervous system structure   3058005
attributes - group4
Finding siteNerve structure   3057000
parents
  • X-linked distal hereditary motor neuropathy   1156840002
  • X-linked recessive hereditary disease   1162976004
  • Arthrogryposis multiplex congenita   205402004
  • Inherited arthrogryposis   28204005
  • Spinal muscular atrophy   5262007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            X-linked distal hereditary motor neuropathy   1156840002
              X-linked distal arthrogryposis multiplex congenita   719836007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                X-linked distal arthrogryposis multiplex congenita   719836007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Arthrogryposis   111246005
          Arthrogryposis multiplex congenita   205402004
            X-linked distal arthrogryposis multiplex congenita   719836007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Inherited arthrogryposis   28204005
            X-linked distal arthrogryposis multiplex congenita   719836007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Hereditary motor neuron disease   49793008
              Spinal muscular atrophy   5262007
                X-linked distal arthrogryposis multiplex congenita   719836007

ancestors
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